Cheshire hospital to test newborn babies for more than 200 rare conditions

Parents can decided whether to take part in the world-leading study

Leighton Hospital is to start testing newborn babies for more than 200 rare genetic conditions as part of a world-leading study. The maternity unit has joined the Generation Study, led by Genomics England in Partnership with NHS England, which involves the offer of whole genome sequencing to identify treatable, rare genetic conditions shortly after a child is born.

At Mid Cheshire Hospitals, expectant parents will be told about the study during pregnancy, and if interested a research midwife will have a detailed conversation with them to decide if they want to take part. Shortly after birth, a doctor, nurse or midwife will confirm with the parents that they are still happy for their baby to be tested and a blood sample will be taken - usually from a baby’s umbilical cord - and sent to a laboratory for whole genome sequencing.

Results are then reviewed before being returned to parents. If a newborn baby is identified as having a treatable childhood condition, families and carers will be provided with further NHS testing to confirm a diagnosis, and ongoing support and treatment.

The study aims to screen 100,000 newborns in England, with over 40 hospitals currently taking part. Caroline Dixon, Senior Research Team Lead Midwifery at Mid Cheshire Hospitals, said: “We’re excited to have started recruitment to the Generation Study and to be playing our part locally in what could be ground-breaking research.

“Our expert team here at Leighton Hospital will provide as much support and information as possible so expectant parents can make an informed decision about taking part.” Jaime Halvorsen, Director of Research and Development at Mid Cheshire Hospitals, said: “Our Trust wants to create a culture where research is part of everyday care, helping us to push forwards towards the next innovative clinical advances and breakthroughs.

“Every patient deserves the opportunity to benefit from research that could change or even save lives – and at Mid Cheshire Hospitals we want to be at the forefront of this. Our participation in the Generation Study is yet another shining example of our values – always striving for more and setting ourselves high standards to deliver the best quality, safe care.”

It is hoped the study will enable hundreds of patients across the country to benefit from earlier diagnosis and treatment that could help slow the progression of disease and improve or even extend their lives. For example, the study could help to identify conditions such as metachromatic leukodystrophy (MLD), a rare, inherited disorder that causes progressive nerve damage, leading to loss of physical and mental skills.

Without tests, symptoms of rare conditions such as this can appear later in childhood. By providing earlier diagnosis, families can access the right support much earlier. Dr Rich Scott, Chief Executive Officer at Genomics England, said: “The Generation Study is a pivotal moment as we look to develop evidence on whether genomic newborn screening should be offered to all children – to do more for the thousands of children born every year in the UK with a treatable genetic condition.

“Children with these conditions often go years without receiving a diagnosis. Cutting this time would mean earlier access to what can be life-changing treatment.” Professor Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for NHS Genomics, said: “By studying the potential of using whole genome sequencing from birth, we can find out whether delivering early treatments for rare genetic conditions could transform a young patient’s care and whether there are longer term benefits of having a whole genome sequence from birth. This is another example that demonstrates the importance of providing patients with access to the latest innovative research as part of their routine NHS care.”

For more information about the Generation Study and to register your interest visit www.generationstudy.co.uk

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